Associated Papers
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Mak CCY et al.
Ebiomedicine, 2025
40280028 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review.
Zhao A et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2022
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Mak CCY et al.
Brain : a Journal of Neurology, 2020
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